遗传性LEC型肝炎大鼠威尔逊氏病基因的缺失。

Idengaku zasshi Pub Date : 1995-02-01 DOI:10.1266/jjg.70.25
T Ono, R Fukumoto, Y Kondoh, M C Yoshida
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引用次数: 7

摘要

LEC大鼠出现铜代谢紊乱和肝炎,与人肝豆状核变性相似。我们最近证明,负责LEC大鼠肝炎(hts)的基因与威尔逊病基因(WD)同源。本研究发现LEC大鼠的WD cDNA缺失至少90个碱基对,与人类WD cDNA序列的核苷酸3981 ~ 4071相对应。这种缺失与肝铜积累和肝炎有关,被认为是LEC大鼠肝脏疾病的主要突变。通过荧光原位杂交(FISH)将WD基因定位到大鼠16号染色体q12.2-q12.4带。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Deletion of the Wilson's disease gene in hereditary hepatitis LEC rats.

LEC rats develop disorder of cooper metabolism and hepatitis similar to those of human Wilson's disease. We recently demonstrated that the gene responsible for hepatitis (hts) of LEC rats is homologous to Wilson's disease gene (WD). The present study showed a deletion of at least 90 base pair of WD cDNA in LEC rats, which corresponds to nucleotides 3981 to 4071 in human WD cDNA sequence. This deletion was linked with hepatic copper accumulation and hepatitis, and considered to be a primary mutation for hepatic disorder in the LEC rat. The WD gene was assigned to rat chromosome 16 at band q12.2-q12.4 by fluorescence in situ hybridization (FISH).

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